药物化学

Amyloidosis: Laboratory and Clinical Perspectives

Abstract

Esma Evrim Dogan, Fahri Åžahin and Guray Saydam

Amyloidosis is a general name for a group of rare diseases, which may end up with progressive organ damage and death as a result of the accumulation of the low-molecular-weight subgroups of normal serum proteins, after their precipitation in the extracellular tissues in the form of cross-ß-folded fibrillar aggregates, which are resistant to proteolysis. More than 30,000 different proteins are produced in human cells. The first product of the protein synthesis is a linear amino acid chain (primary structure). AL amyloidosis, which is also called primary amyloidosis, is the most common and most aggressive type of systemic amyloidosis with an annual incidence of 8.9/1,000,000 in Western countries. The common signs and symptoms of AL amyloidosis are fatigue, weight loss, syncope, peripheral edema, dyspnea, diarrhea or constipation. The clinical suspicion is the first and the most important step for the diagnosis of amyloidosis. All patients with a visceral amyloid syndrome need therapy in AL amyloidosis. The goals of the current treatment approach of systemic AL amyloidosis includes rapidly reduction in the supply of the monoclonal amyloidogenic light chain by eradicating the plasma cell or B cell clone to prevent the new amyloid formation and facilitate the clearance of the existing amyloid deposits and, also supportive care to sustain the function of the organ involved and maintaining the quality of life.